Báo cáo khoa học: New insights into Fragile X syndrome Relating genotype to phenotype at the molecular level docx

... New insights into Fragile X syndrome Relating genotype to phenotype at the molecular level Irina Pozdnyakova 1 and Lynne Regan 1,2 1 Department of Molecular Biophysics and ... association of FMRP in RNP particles. Thus, despite the fact that the I304N mutation cau- ses Fragile X syndrome, and that investigations of the I304N mutation play a key role in...

Ngày tải lên: 30/03/2014, 15:20

... calculated based on the ratio between the I (0) of EcODC and that of BSA (4 mgÆmL )1 ) and the molecular mass of the latter (67 kDa). Theoretical scattering patterns were calculated from the crystal ... cofactor activation (deprotonation of the C2 atom of ThDP [21]) as well as the rate of decarboxylation [22]. A sim- ilar activation mechanism is probably operative in pyruvate...

Ngày tải lên: 06/03/2014, 11:20

... cor- respond to the expected complex-type N-glycans with up to five Hex-HexNAc units. The majority carry a variable degree of Neu5Ac sialylation and an extra HexNAc residue that is attributable to the ... attached to the 3-position of HexNAc of the terminal Hex-HexNAc unit, giving rise to the Le x epitope and SLe x when additionally sialylated. The characteristic D...

Ngày tải lên: 07/03/2014, 06:20

... in the sheath fluid [26] and therefore that the decrease of the intracellular rhodamine should not exceed 1%. These experiments were performed in K + -buffer. Mathematical calculations The mathematical ... of the drug bound to the drug free in the cytosol, which subsequently allows the determination of the real number of molecules that penetrate per second into one cell a...

Ngày tải lên: 08/03/2014, 08:20

... indicated below (the asterisk indicates the stop codon). Both nucleotide and amino acid numbers are indicated at the end of the lines. The putative polyadenylation signal (AATAAA) is indicated in bold ... between the CPRP and the mature hormone sequence, the posi- tion of the six cysteyl residues in the sequence, the size of the putative mature peptide (72 amino acid...

Ngày tải lên: 23/03/2014, 07:20

... heg mutation exhibit a dilated heart phenotype. The myocardium proliferates to a normal number of cells, but instead of building into concentric layers to form the walls of the heart, the myocardial ... on the vasculature instead of the heart, they found that these fish developed dilated, thin-walled vessels that failed to form lumens. The dilated, thin- walled, closed v...

Ngày tải lên: 15/03/2014, 10:20

... central a-helix to which the catalytic Cys belongs [49]. The polarizing effect originating from the helix concerned facilitates the transfer of the proton from the catalytic Cys pres- ent at the N-terminus ... [5,23,24]. The C2 atom of the epoxy ring of E-64 is covalently bound to the active site Cys (Cys25) Sc atom, with an average bond distance of 1.8 A ˚ (Fig. 2A)...

Ngày tải lên: 18/02/2014, 16:20

... levels of cytochrome b. Together, these results suggest that the absence of subunit 6 delays cytochrome c 1 maturation while the absence of the cytochrome b subcomplex (formed by Fig. 5. Schematic model ... of 50 mL, the mixture was centrifuged at 1000 g for 10 min at 4 °C. The supernatant was then centrifuged at 18 500 g for 30 min at 4 °C in order to pellet the mitocho...

Ngày tải lên: 19/02/2014, 12:20

... of the nature of the mutations which were not truncating mutations (a possible aber- rant splicing effect of these two mutations was not investigated) and the fact that the biallelism of these mutations ... emphasizing the lack of sensitivity of direct sequencing of lesion DNA. These data established the existence of biallelic somatic and germline mutations, whatever the nature...

Ngày tải lên: 15/03/2014, 10:20

... question about the etiology of the cavernous malformations in blood vessels is to ask what is unique to endothelial cells. Indeed, depletion of CCM2 targeted to the endothe- lium and not to the surrounding ... established that the Ras family small G protein Rap1 stimulates cell adhesion to the extracellular matrix by activating integrins and cell–cell adhesion by stimula...

Ngày tải lên: 15/03/2014, 10:20